The clinical bioinformatics ontology: a curated semantic network utilizing RefSeq information.

Existing medical vocabularies lack rich terms to describe findings that are generated by modem molecular diagnostic procedures. Most bioinformatics resources were designed primarily to support the needs of the research community. We describe the development of a curated resource, the Clinical Bioinformatics Ontology (CBO), a semantic network appropriate for describing clinically significant genomics concepts. The CBO includes concepts appropriate for both molecular diagnostics and cytogenetics. A standardized methodology based on consistent application of RefSeq information is applied to the curation of the CBO in order to provide a reproducible and reliable tool. Challenges related to this curation process are discussed in this paper. At the time of submission the CBO included 4,069 concepts, associated by 8,463 relationships.